List of variants in gene CNNM4 reported as likely pathogenic for Jalili syndrome

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_020184.4(CNNM4):c.1312dup (p.Leu438fs)	rs746879923
NM_020184.4(CNNM4):c.1423G>A (p.Val475Met)
NM_020184.4(CNNM4):c.212_222dup (p.Asn75delinsAlaAlaProTer)
NM_020184.4(CNNM4):c.694_722del (p.Ile232fs)	rs2469454032
NM_020184.4(CNNM4):c.707G>A (p.Arg236Gln)	rs75267011
NM_020184.4(CNNM4):c.731G>T (p.Cys244Phe)	rs1300890772
NM_020184.4(CNNM4):c.782T>C (p.Leu261Pro)	rs1574047005

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